Aurora magazine

In recent years we are seeing an increasing use of liquid biopsy. This technique makes it possible to perform non-invasive and safe genetic screening. It is used above all in the context of prenatal screening, but tests are also being developed to identify tumor biomarkers.

As technologies become more precise, the possible applications for personalized medicine increase. In the liquid biopsy, the doctors analyze the DNA of the cells in suspension inside the blood. In the case of the fetal DNA test, the fetal cells are separated from the maternal ones. It is also possible to analyze any tumor cells, so as to monitor the progression of the cancer.

This allows the therapy to be adapted to the body's response, without waiting for the positive or - above all - negative effects to be evident. Nevertheless, there are still many studies in progress on the subject of liquid biopsy. Two of the main studies concern the application against melanoma and tumors in general.

Dr. Tatiana Burjanivova's team has identified a melanoma genetic mutation. As a result, it can act as a genetic biomarker for early diagnosis and better treatment of the disease. Dr Hui Kang's team, on the other hand, identified high levels of SOX2-OT RNA in those suffering from lung cancer. The higher the levels, the more advanced the disease and the more metastases there are. Liquid biopsies promise to revolutionize laboratory tests over the next decade. Prenatal screening tests were only a beginning and there are hundreds of possible applications.

Source: eurekalert.org

Scientists from the Center for Cellular and Molecular Biology (CCMB) have identified the genes responsible for male fertility. If deleted or damaged, they cause sterility and also lead to the failure of assisted reproduction techniques.

The discovery could help many men who are unable to have children. In some cases, it could save them as expensive as useless fertilization cycles. It is estimated that around 1 in 7 couples worldwide have fertility problems. In about 50% of cases, the cause is of the male partner.

The factors that lead to infertility can be many: total lack of spermatozoa; sperm deficiency or lack of motility; spermatozoa with an abnormal shape. In some cases, changing lifestyle is enough to increase fertility levels. In many others, genetic factors play an essential role and assisted reproduction remains the only solution. The authors of the study analyzed some genes present in the Y chromosome, responsible for sperm production.

When these genes are missing, fertility collapses in an unrecoverable manner. According to the researchers, this would be the cause of about 8.5% of cases of male infertility. In the worst cases, subjects with this type of genetic variants do not even benefit from assisted fertilization. To identify the variants, the team analyzed the DNA of 973 infertile men. They compared it to that of 587 fertile men. This allowed them to identify a combination of variants typical of the Indian population.

Source: deccanherald.com

Many future mothers suffer the charm of "natural" products, perceived as safer. Unfortunately, this is not always the case: some herbs can be harmful both for the mother and the child. Some "natural" products are linked to complications, including preterm parts. Before taking them, it would therefore be good to consult your gynecologist.

Dr. James McLay's team analyzed data from 74 studies devoted to the topic. Several of these studies are small or partial, but highlight how little we know about the subject. Although it cannot be taken for granted that natural herbs and supplements always do "badly", it is good to pay attention.

Taking certain products lightly, in the belief that they are 100% safe, can have serious consequences. Depending on the country, between 10% and 75% of pregnant women take herbs during pregnancy. They are mainly products against nausea, natural supplements and oils. Data from the 74 studies include the effects of 47 herbal products; 29 of these are based on clinical trials.

The results are not encouraging. Among the accused is liquorice, present in many digestive and relaxing herbal teas. Used in excessive amounts, it raises the pressure and increases the risk of premature birth. Raspberry leaves are a natural remedy for inducing and shortening labor. Nevertheless, it appears that the risk of having to have a caesarean section increases by 3.5 times.

To get a really clear idea of ​​the effects of certain herbs during pregnancy, larger and more in-depth studies would be needed. However, the authors are keen to send a message: before taking certain substances in large quantities, it is always good to consult your doctor.

Source: medicalxpress.com

The adult polycystic kidney (ADPKD) is a genetic disease with an incidence of 1 in 1000 people. As per name, it causes the formation of cysts on both kidneys, compromising organ function. This makes it the leading genetic cause of kidney failure in adult individuals.

The disease is known above all for its devastating effects on the kidneys, which force many patients to have dialysis. Nevertheless, it is actually a systemic disease that also affects other organs. Cysts can affect the liver and pancreas, while the effects can be pushed up to the onset of hypertension and aneurysms.

The adult polycystic kidney usually occurs between 40 and 50 years of age, so it is a late-onset disease. However, the age of onset can be very variable. The first obvious symptoms include lower back pain, blood in the urine, hypertension. Their severity varies from individual to individual, based on genetic and environmental factors. The degeneration of the kidneys may be more or less rapid, but remains inevitable.

The researchers think that there are two possible genetic causes for the polycystic kidney of the adult: mutations in PKD1 and in PKD2. Mutations cause different forms of the disease, which cannot be distinguished on an exclusively clinical level.

Some hypothesize that the anomalies in the first gene are linked to more aggressive forms of the pathology. For the moment, the available therapies are few. Drugs are used to treat chronic pain and hypertension. In severe cases, the kidneys stop working completely and dialysis is needed.

Source: renepolicistico.it